Article

Benchmarking of Germline Copy Number Variant Callers from Whole Genome Sequencing Data for Clinical Applications

2024-07-17

Abstract excerpt

Whole-genome sequencing (WGS) is increasingly favored over other genomic sequencing methods for clinical applications due to its comprehensive coverage and declining costs. WGS is particularly useful for the detection of copy number variants (CNVs), presumed to be more accurate than targeted sequencing assays such as WES or gene panels, because it can identify breakpoints in addition to changes in coverage depth....

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Literature Corpus work: 81921e0a-9837-599e-9038-d5f84a2cf9b7
DOI: 10.1101/2024.07.12.24310338

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